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IP International Journal of Medical Paediatrics and Oncology

Congenital nephrogenic diabetes insipidus with basal ganglia calcifications - A case report

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Author Details : Uma Raju, A. Garg

Volume : 3, Issue : 1, Year : 2017

Article Page : 40-41

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A male toddler aged 33 months presented with recurrent episodes of fever, polyuria, polydipsia, dehydration, excessive cry, seizures and failure to thrive since early infancy. Developmental milestones were normal. Clinical examination was essentially normal except for malnutrition (IAP Grade 2). Investigations revealed water deprivation test positive for Nephrogenic Diabetes Insipidus. Serum ADH level was raised at 20.76 pmol/l (N -0.00-13.00 pmol/l). Renal function tests and other biochemical parameters were normal except for persistent hypernatremia ((155-168mEq/L). Ultrasound abdomen did not reveal any abnormality. Computed tomography of the head showed bilateral basal ganglia calcification. He was treated with hydrochlorothiazide (2.0 mg/kg/d) and amiloride (0.2mg/kg/d) along with a salt and protein restricted diet. Following treatment there was a marked improvement in his condition as evidenced by reduction of polyuria by 40%, normalizing of serum sodium state and a steady weight gain of 2.0kg over a period of six months. This child had a pathognomic presentation of Congenital Nephrogenic Diabetes Insipidus but the condition escaped detection due to a multitude of common symptoms as well as seizures. We therefore report a rare entity of a CNDI with bilateral basal ganglia calcifications.

: Polyuria, Polydipsia, Seizures, Basal Ganglia Calcification, Nephrogenic Diabetes Insipidus

How to cite : Raju U, Garg A, Congenital nephrogenic diabetes insipidus with basal ganglia calcifications - A case report. IP Int J Med Paediatr Oncol 2017;3(1):40-41

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